Canonical Allele Identifier: CA2556482379

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697565_50697566insGGCCCCGCGCCCGGCCCCGGCC , CM000684.2:g.50697565_50697566insGGCCCCGCGCCCGGCCCCGGCC	GRCh38
NC_000022.10:g.51135993_51135994insGGCCCCGCGCCCGGCCCCGGCC , CM000684.1:g.51135993_51135994insGGCCCCGCGCCCGGCCCCGGCC	GRCh37
NC_000022.9:g.49482859_49482860insGGCCCCGCGCCCGGCCCCGGCC	NCBI36
NG_008607.2:g.28211_28212insGGCCCCGCGCCCGGCCCCGGCC
NG_070230.1:g.33430_33431insGGCCCCGCGCCCGGCCCCGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.949_950insGGCCCCGCGCCCGGCCCCGGCC	ENSP00000489147.2:p.Pro317ArgfsTer?
ENST00000414786.7:n.1533_1534insGGCCCCGCGCCCGGCCCCGGCC
ENST00000673971.2:c.1306_1307insGGCCCCGCGCCCGGCCCCGGCC	ENSP00000501192.1:p.Pro436ArgfsTer?
ENST00000262795.6:c.949_950insGGCCCCGCGCCCGGCCCCGGCC	ENSP00000489147.2:p.Pro317ArgfsTer?
ENST00000673971.1:c.1306_1307insGGCCCCGCGCCCGGCCCCGGCC	ENSP00000501192.1:p.Pro436ArgfsTer?
ENST00000673995.1:c.2_3insGGCCCCGCGCCCGGCCCCGGCC
ENST00000262795.5:c.1345_1346insGGCCCCGCGCCCGGCCCCGGCC
ENST00000414786.6:n.1533_1534insGGCCCCGCGCCCGGCCCCGGCC
ENST00000445220.5:c.1327_1328insGGCCCCGCGCCCGGCCCCGGCC	ENSP00000489407.1:p.Pro443ArgfsTer?